Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27-06-2019

Symbol	BEHRS2
Location	12q24.31
Name	Behr syndrome 2
Corresponding gene	C12orf65
Main clinical features	childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties first symptom in all patients was childhood-onset optic atrophy, followed by spastic paraparesis, distal weakness, motor neuropathy and ophthalmoparesis
Genetic determination	not applicable
Function/system disorder	eye
	neoplasia
	mental retardation
Type	disease

Remark(s)